N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.
|Original language||English (US)|
|Number of pages||8|
|Journal||Seminars in Pediatric Neurology|
|State||Published - Sep 2005|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology